NURBEKOVA, A.A. (2015) ROLE OF MOLECULAR GENETIC ANALYSIS IN THE DIAGNOSIS AND TREATMENT OF DIABETES MELLITUS IN CHILDREN. Научно-практический журнал “Вестник КазНМУ” (1). ISSN 9965-01-300-4
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ROLE OF MOLECULAR GENETIC ANALYSIS IN THE DIAGNOSIS AND TREATMENT OF DIABETES MELLITUS IN CHILDREN.pdf Download (898kB) | Preview |
Abstract
Defects of KCJN11 gene, encoding Kir6.2 potassium channel subunit, is the most frequent cause of diabetes developing in children up to 6 months of age. Activated heterozygous missense mutation in the KCNJ11 gene disturbs the biosynthesis of insulin and cause diabetes which manifested during the first weeks of life. We performed the first molecular genetic study and made description of case of neonatal diabetes in Kazakhstan. The role of molecular genetic analysis of defects of beta-cell function in the differential diagnosis of diabetes in children during the first year of life was described.
| Item Type: | Article |
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| Uncontrolled Keywords: | neonatal diabetes, a mutation in the potassium channel |
| Subjects: | R Medicine > R Medicine (General) |
| Divisions: | Научно-практический журнал "Вестник КазНМУ" > Выпуск №1 2015 год |
| Depositing User: | Mr Askhat Zhakaev |
| Date Deposited: | 16 Mar 2015 04:24 |
| Last Modified: | 16 Mar 2015 04:24 |
| URI: | http://repository.kaznmu.kz/id/eprint/14110 |
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